JIMD Podcasts

Dr Sema Kalkan Uçar discusses her observations around two siblings with galactose mutarotase deficiency. Available open access at the link below.

Two siblings with galactose mutarotase deficiency: Clinical differences

Havva Yazici, et al

https://doi.org/10.1002/jmd2.12263

Dr Megan Brophy and Dr Bob Bell join the podcast to talk about their recent work looking at AAV gene therapy in fibroblasts from patients with classic galactosemia. We discuss new insights into disease physiology and consider the challenges of scaling gene therapy towards in vivo model.

AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts

Megan L. Brophy, et al

https://doi.org/10.1002/jimd.12468

Vicente Rubio, Belén Pérez, Santiago Ramón-Maiques join the podcast to discuss their recent work analysing the crystal structure of PMM2 and the insights this provides towards developing new treatments.

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures

Alvaro Briso-Montiano, et al

https://doi.org/10.1002/jimd.12461

Dr Ashish Gupta and Dr Rene Pierpont of the University of Minnesota discuss their work looking at neurocognitive outcomes after transplant in childhood cerebral adrenoleukodystrophy.

Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy

Ashish O. Gupta, et al

https://doi.org/10.1002/jimd.12435

The first podcast of 2022 discusses two papers with negative outcomes and explores the importance of sharing such results for patients and families and clinicians working with rare disease. Dr Nicoline Løkken discusses her work with resveratrol in mitochondrial myopathies (from 5m 18s) and Dr Arunabha Ghosh and Professor Brian Bigger talk about the use of genistein in Sanfilippo syndrome (from 10m 38s).

No effect of resveratrol in patients with mitochondrial myopathy: A cross-over randomized controlled trial

Nicoline Løkken, et al

https://doi.org/10.1002/jimd.12393

High dose genistein in Sanfilippo syndrome: A randomised controlled trial

Arunabha Ghosh, et al

https://doi.org/10.1002/jimd.12407

Dr Gabriele Ramoser, Dr Federica Caferri, Dr Sabine Scholl-Bürgi and Dr Daniela Karall joined the podcast to discuss their recent work looking at the Austrian "Registry for Inherited Metabolic Disorders". We spoke about the importance of patient registries, variable prevalence rates and the difficulties around where to care for adults with IMD.

100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

Gabriele Ramoser, et al

https://doi.org/10.1002/jimd.12442

In March 2021 our special issue look at all aspects of Mitochondrial Disease. In this special episode Professor Shamima Rahman guest hosts as we welcome David Dimmock, Mike Lawlor, Guilhian Leipnitz and Marc Patterson to discuss their papers from that issue, looking at novel therapies in mitochondrial disease.

For those skipping: DGUOK (from 3min 30sec), SO deficiency (from 19min) and Friedreich's Ataxia (29min 10sec).

The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats

Vanden Avond, et al

https://doi.org/10.1002/jimd.12354

The mitochondrial-targeted reactive species scavenger JP4-039 prevents sulfite-induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats

Glänzel, et al

https://doi.org/10.1002/jimd.12310

Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study

Qureshi, et al

https://doi.org/10.1002/jimd.12285

Associate Professor Sabine Fuchs and PhD Candidate Vivian Lehmann join the podcast to explain cholangiocyte organoids and the role they play in understanding rare disease and testing new treatments.

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Vivian Lehmann, et al

https://doi.org/10.1002/jimd.12450

Dr Sandra Kingma from the Centre for Rare Diseases in Antwerp joins the podcast to discuss all things Mucopolysaccharidosis type I. Her recent paper asks 'where are we now?' and I asked her about where we are going next?

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Sandra D. K. Kingma, An I. Jonckheere,

First published: 03 September 2021 https://doi.org/10.1002/jimd.12431

The podcast is joined by the wonderful Dr Sander Houten and Dr Pablo Ranea-Robles who explain their recent working looking at the ATP binding cassette ABCD3 in dicarboxylic fatty acid metabolism.

The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis

Pablo Ranea-Robles et al

https://doi.org/10.1002/jimd.12440